MCID: BMR003
MIFTS: 9

Beemer Ertbruggen Syndrome

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Beemer Ertbruggen Syndrome

MalaCards integrated aliases for Beemer Ertbruggen Syndrome:

Name: Beemer Ertbruggen Syndrome 54 74
Peculiar Facial Appearance, Hydrocephalus, Double-Outlet Right Ventricle, Genital Anomalies and Dense Bones with Lethal Outcome 54
Hydrocephalus, Cardiac Malformation, Dense Bones, Etc 54
Beemer Lethal Malformation Syndrome 54

Classifications:



External Ids:

UMLS 74 C1859526

Summaries for Beemer Ertbruggen Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1237Disease definitionBeemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984.Visit the Orphanet disease page for more resources.

MalaCards based summary : Beemer Ertbruggen Syndrome, also known as peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome, is related to beemer lethal malformation syndrome and hydrocephalus. Affiliated tissues include bone.

Related Diseases for Beemer Ertbruggen Syndrome

Diseases related to Beemer Ertbruggen Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 beemer lethal malformation syndrome 11.5
2 hydrocephalus 10.6
3 double outlet right ventricle 10.6

Symptoms & Phenotypes for Beemer Ertbruggen Syndrome

Drugs & Therapeutics for Beemer Ertbruggen Syndrome

Search Clinical Trials , NIH Clinical Center for Beemer Ertbruggen Syndrome

Genetic Tests for Beemer Ertbruggen Syndrome

Anatomical Context for Beemer Ertbruggen Syndrome

MalaCards organs/tissues related to Beemer Ertbruggen Syndrome:

42
Bone

Publications for Beemer Ertbruggen Syndrome

Articles related to Beemer Ertbruggen Syndrome:

# Title Authors Year
1
Peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome. ( 6507485 )
1984

Variations for Beemer Ertbruggen Syndrome

Expression for Beemer Ertbruggen Syndrome

Search GEO for disease gene expression data for Beemer Ertbruggen Syndrome.

Pathways for Beemer Ertbruggen Syndrome

GO Terms for Beemer Ertbruggen Syndrome

Sources for Beemer Ertbruggen Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....